Pharmacogenetics: Role of Single Nucleotide Polymorphisms


YÜCESAN E. , ÖZTEN KANDAŞ N.

THERANOSTICS: METHODS AND PROTOCOLS, vol.2054, pp.137-145, 2019 (Journal Indexed in SCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 2054
  • Publication Date: 2019
  • Doi Number: 10.1007/978-1-4939-9769-5_9
  • Title of Journal : THERANOSTICS: METHODS AND PROTOCOLS
  • Page Numbers: pp.137-145

Abstract

Genome sequencing methods have basically similar algorithms, although they show a few differences between the platforms. The human genome contains approximately three billion base pairs, and this amount is huge and therefore impossible to sequence at one step. However, this amount is not a problem for developed technology. Researchers break DNA into small random pieces and then sequence and reassemble. Library preparation, sequencing, bioinformatic approaches and reporting. High-quality library preparation is critical and the most important part of the next-generation sequencing workflow. Successful sequencing directly requires high-quality libraries. Sequencing is second step and all high-throughput sequencing approaches are generally based on conventional Sanger sequencing. After preparation of library and sequencing, later steps are completely computer-based (in silico) approaches called as bioinformatics.